A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505448



Internal ID20878718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29105064..29191356hg38UCSC Ensembl
chr17:27432082..27518374hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3886293
hg1986293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184810
Samples
Known GenesMYO18A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505448
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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